A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14901151



Internal ID3027751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112670673..112671881hg38UCSC Ensembl
Innerchr13:112670704..112671851hg38UCSC Ensembl
Outerchr13:112670643..112671912hg38UCSC Ensembl
chr13:113324987..113326195hg19UCSC Ensembl
Innerchr13:113325018..113326165hg19UCSC Ensembl
Outerchr13:113324957..113326226hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381209
hg191209
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633584
Supporting Variants
SamplesHG02666
Known GenesC13orf35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14901151
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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